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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Ppm1d and INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with PPM1D (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  (DOID:9004839)
  • 14 papers in RGD have been used to annotate Ppm1d


    • An association has been curated linking Ppm1d and INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with PPM1D (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  (DOID:9004839)
  • 14 papers in RGD have been used to annotate Ppm1d
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Ppm1d and INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with PPM1D (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  (DOID:9004839)
  • 14 papers in RGD have been used to annotate Ppm1d
  • Curation Notes: ClinVar Annotator: match by term: Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | ClinVar Annotator: match by term: PPM1D-related condition
  • Original References(s): PMID:23907125 PMID:24262437 PMID:25741868 PMID:28343630 PMID:28492532 PMID:28852847 PMID:29752822 PMID:29758562 PMID:30216591 PMID:30388424 PMID:30795918 PMID:31916397 PMID:37378944


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